These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

242 related items for PubMed ID: 9583072

  • 1. Congenital adrenal hyperplasia. Molecular characterization.
    Ko TM, Kao CH, Ho HN, Tseng LH, Hwa HL, Hsu PM, Chuang SM, Lee TY.
    J Reprod Med; 1998 Apr; 43(4):379-86. PubMed ID: 9583072
    [Abstract] [Full Text] [Related]

  • 2. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 3. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Sep; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 4. A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
    Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke MB, Kofler R, Peters H.
    Hum Mutat; 1999 Sep; 13(6):505. PubMed ID: 10408786
    [Abstract] [Full Text] [Related]

  • 5. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 6. Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives.
    Anastasovska V, Kocova M.
    Prilozi; 2010 Sep 10; 31(2):71-82. PubMed ID: 21258279
    [Abstract] [Full Text] [Related]

  • 7. Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
    Dardis A, Bergada I, Bergada C, Rivarola M, Belgorosky A.
    J Pediatr Endocrinol Metab; 1997 Sep 10; 10(1):55-61. PubMed ID: 9364343
    [Abstract] [Full Text] [Related]

  • 8. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
    Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P.
    Iran Biomed J; 2008 Jan 10; 12(1):49-53. PubMed ID: 18392095
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
    Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR.
    Horm Res; 2005 Jan 10; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 10. [Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia].
    Fonseca D, Gutiérrez A, Silva C, Coll M, Malo G, Orjuela C, Arteaga C, Giraldo A.
    Biomedica; 2005 Jun 10; 25(2):220-30. PubMed ID: 16022377
    [Abstract] [Full Text] [Related]

  • 11. Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Yang YP, Corley N, Garcia-Heras J.
    Mol Diagn; 2001 Sep 10; 6(3):193-9. PubMed ID: 11571713
    [Abstract] [Full Text] [Related]

  • 12. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
    Mahmoud RAA, Amr NH, Toaima NN, Kamal TM, Elsedfy HH.
    J Endocrinol Invest; 2022 Feb 10; 45(2):347-359. PubMed ID: 34341969
    [Abstract] [Full Text] [Related]

  • 13. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
    Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.
    Eur J Endocrinol; 2005 Jul 10; 153(1):99-106. PubMed ID: 15994751
    [Abstract] [Full Text] [Related]

  • 14. Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.
    Rothberg PG, Baker DW, Bradley JF.
    Genet Test; 1998 Jul 10; 2(4):343-6. PubMed ID: 10464614
    [Abstract] [Full Text] [Related]

  • 15. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
    Owerbach D, Ballard AL, Draznin MB.
    J Clin Endocrinol Metab; 1992 Mar 10; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 16. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
    Lee HH, Chao HT, Ng HT, Choo KB.
    J Med Genet; 1996 May 10; 33(5):371-5. PubMed ID: 8733045
    [Abstract] [Full Text] [Related]

  • 17. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
    Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA.
    J Clin Endocrinol Metab; 2003 Aug 10; 88(8):3852-9. PubMed ID: 12915679
    [Abstract] [Full Text] [Related]

  • 18. [Technique of PCR-ACRS for the detection of CYP21 gene mutations].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct 10; 20(5):449-51. PubMed ID: 14556206
    [Abstract] [Full Text] [Related]

  • 19. A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
    Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B.
    J Clin Endocrinol Metab; 2003 Dec 10; 88(12):5893-7. PubMed ID: 14671187
    [Abstract] [Full Text] [Related]

  • 20. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
    de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.
    Eur J Endocrinol; 2016 Aug 10; 175(2):107-16. PubMed ID: 27185867
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.